A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265284



Internal ID22266997
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:203504638..203533596hg38UCSC Ensembl
Outerchr1:203473766..203502724hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224764
Supporting Variants
SamplesNA19238
Known GenesOPTC
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265284
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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